Incidental Mutation 'R1315:Rrp1b'
| ID |
157530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp1b
|
| Ensembl Gene |
ENSMUSG00000058392 |
| Gene Name |
ribosomal RNA processing 1B |
| Synonyms |
2600005C20Rik |
| MMRRC Submission |
039381-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32275613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 387
(F387L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081339]
[ENSMUST00000150469]
|
| AlphaFold |
Q91YK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081339
AA Change: F387L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: F387L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop52
|
10 |
218 |
3.3e-73 |
PFAM |
|
low complexity region
|
344 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150469
|
| SMART Domains |
Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,387,128 (GRCm39) |
V202A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,262 (GRCm39) |
M1503T |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,831,270 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,361,060 (GRCm39) |
T1457I |
probably damaging |
Het |
| Or8k24 |
C |
A |
2: 86,216,518 (GRCm39) |
M81I |
possibly damaging |
Het |
| Osbpl2 |
T |
C |
2: 179,790,395 (GRCm39) |
L223P |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,142,486 (GRCm39) |
D1301G |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,450,347 (GRCm39) |
V49A |
probably benign |
Het |
| Spdl1 |
T |
A |
11: 34,704,234 (GRCm39) |
K533M |
unknown |
Het |
| Wnt8b |
T |
C |
19: 44,500,462 (GRCm39) |
C350R |
probably damaging |
Het |
|
| Other mutations in Rrp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Rrp1b
|
APN |
17 |
32,271,793 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01383:Rrp1b
|
APN |
17 |
32,277,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02740:Rrp1b
|
APN |
17 |
32,278,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Rrp1b
|
APN |
17 |
32,275,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Rrp1b
|
APN |
17 |
32,276,150 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03396:Rrp1b
|
APN |
17 |
32,276,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02980:Rrp1b
|
UTSW |
17 |
32,269,013 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0138:Rrp1b
|
UTSW |
17 |
32,279,426 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0394:Rrp1b
|
UTSW |
17 |
32,277,538 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0681:Rrp1b
|
UTSW |
17 |
32,279,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Rrp1b
|
UTSW |
17 |
32,275,611 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1700:Rrp1b
|
UTSW |
17 |
32,276,178 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1815:Rrp1b
|
UTSW |
17 |
32,275,785 (GRCm39) |
missense |
probably benign |
|
|
R1940:Rrp1b
|
UTSW |
17 |
32,275,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2176:Rrp1b
|
UTSW |
17 |
32,275,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2352:Rrp1b
|
UTSW |
17 |
32,278,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2975:Rrp1b
|
UTSW |
17 |
32,277,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Rrp1b
|
UTSW |
17 |
32,274,984 (GRCm39) |
splice site |
probably benign |
|
|
R5114:Rrp1b
|
UTSW |
17 |
32,255,445 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5242:Rrp1b
|
UTSW |
17 |
32,270,677 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5647:Rrp1b
|
UTSW |
17 |
32,274,985 (GRCm39) |
splice site |
probably benign |
|
|
R5739:Rrp1b
|
UTSW |
17 |
32,264,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Rrp1b
|
UTSW |
17 |
32,275,658 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5878:Rrp1b
|
UTSW |
17 |
32,266,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Rrp1b
|
UTSW |
17 |
32,275,601 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6734:Rrp1b
|
UTSW |
17 |
32,274,278 (GRCm39) |
intron |
probably benign |
|
|
R6742:Rrp1b
|
UTSW |
17 |
32,275,908 (GRCm39) |
missense |
probably benign |
|
|
R6759:Rrp1b
|
UTSW |
17 |
32,276,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6855:Rrp1b
|
UTSW |
17 |
32,271,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7014:Rrp1b
|
UTSW |
17 |
32,268,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Rrp1b
|
UTSW |
17 |
32,277,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7689:Rrp1b
|
UTSW |
17 |
32,274,900 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7834:Rrp1b
|
UTSW |
17 |
32,270,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7993:Rrp1b
|
UTSW |
17 |
32,277,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8272:Rrp1b
|
UTSW |
17 |
32,276,163 (GRCm39) |
missense |
probably benign |
|
|
R8371:Rrp1b
|
UTSW |
17 |
32,268,458 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8885:Rrp1b
|
UTSW |
17 |
32,270,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGTCAGGGTTTCTACAGCAG -3'
(R):5'- ATGCCCACTGACAGCGTCATTC -3'
Sequencing Primer
(F):5'- acggcagactttagaccag -3'
(R):5'- ACATGTCCTCCTGAGGTAAAGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation